Varaico: Literature-Extracted Genetic Variants

Gene:TRIOBP
Variant:p.R861*
Back to variants list

TRIOBP

NM_001039141.3:p.R861*

Associated Papers

Association of Genetic Diagnoses for Childhood-Onset Hearing Loss With Cochlear Implant Outcomes.

Carlson RJ et al.

Jama Otolaryngology-- Head & Neck Surgery, 2023

Case Report: Novel Compound Heterozygous Variants in TRIOBP Associated With Congenital Deafness in a Chinese Family.

Zhou C et al.

Frontiers in Genetics, 2021

The TRIOBP Isoforms and Their Distinct Roles in Actin Stabilization, Deafness, Mental Illness, and Cancer.

Zaharija B et al.

Molecules (basel, Switzerland), 2020

A novel mutation in TRIOBP gene leading to congenital deafness in a Chinese family.

Zhou B et al.

Bmc Medical Genetics, 2020

Targeted Next-Generation Sequencing of a Deafness Gene Panel (MiamiOtoGenes) Analysis in Families Unsuitable for Linkage Analysis.

Shang H et al.

Biomed Research International, 2018

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.

Pollak A et al.

Bmc Medical Genetics, 2017

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment.

Wesdorp M et al.

Hearing Research, 2017

Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.

Yan D et al.

Human Genetics, 2016

Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.

Gu X et al.

Clinical Genetics, 2015

Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP Gene.

Fardaei M et al.

International Journal of Molecular and Cellular Medicine, 2015

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."